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    Evaluation of seizure semiology, genetics, magnetic resonance imaging, and electroencephalogram findings in children with Rett syndrome: A multicenter retrospective study
    (Elsevier, 2024) Yildiz, Nihal; Serdaroglu, Esra; Kart, Pinar Ozkan; Besen, Seyda; Kanmaz, Seda; Toprak, Dilara Ece; Kilic, Betul
    Objectives: This study aimed to evaluate seizure semiology, electroencephalogram (EEG), magnetic resonance imaging (MRI), and genetic findings, as well as treatment choices in Rett syndrome (RTT). Methods: A retrospective analysis was conducted on one hundred and twenty cases diagnosed with RTT with a genetic mutation. Data were obtained from nine participating centers. Results: In this study, 93.3 % of patients were female, with typical RTT found in 70 % of cases. Genetic etiology revealed MECP2, FoxG1, and CDKL5 in 93.8 %, 2.7 %, and 1.8 % of cases, respectively. Atypical RTT clinics were observed in 50 % of male cases, with the first EEG being normal in atypical RTT cases (p = 0.01). Generalized tonic-clonic and myoclonic epilepsy were the most common seizure semiologies, while absence and focal epilepsy were less prevalent. Valproate, levetiracetam, lamotrigine, and clobazam were the most commonly used antiepileptic drugs, affecting the severity and frequency of seizures (p = 0.015, p = <0.001, p = 0.022, and p = <0.001, respectively). No significant differences were observed in EEG findings. The initiation of anti-seizure medications significantly altered seizure characteristics (Table 4). A ketogenic diet and vagal nerve stimulation (VNS) correlated with a 50 % improvement in cognitive function, while steroid treatment showed a 60 % improvement. Remarkably, seizures were substantially reduced after VNS application. Conclusion: This study underscores the importance of genetic diagnosis in RTT cases with a clinical diagnosis. These preliminary results will be further validated with the inclusion of clinically diagnosed RTT cases in our ongoing study.
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    First-Drug Efficacy and Drug-Resistant Epilepsy Rates in Children With New-Onset Epilepsies: A Multicenter Large Cohort Study
    (Sage Publications Ltd, 2024) Gencpinar, Pinar; Arican, Pinar; Dundar, Nihal Olgac; Kilic, Betul; Sarigecili, Esra; Okuyaz, Cetin; Tekgul, Hasan
    Objective: This study aimed to assess the first-drug efficacy rate in newly diagnosed children with epilepsies treated with antiseizure medications. Methods: This retrospective study was conducted on 1003 children (age range: 3-10 years, and the mean duration of follow-up: 22 +/- 13 months) with newly diagnosed epilepsy. The following parameters were evaluated: first-drug efficacy rate, first-drug-failure rate, and drug resistance rate in the cohort. Results: The first-drug-failure rate was defined in 335/1003 (33%) of the patients, no seizure control in 315 (31%), and drug withdrawal in 20 (2%). There was no significant difference between the group with focal-onset seizures and the group with generalized onset seizures. The first-drug efficacy rate was 67% in children with focal-onset seizures and 66% in children with generalized-onset seizures. Adjunctive antiseizure medication therapy was initiated in 335 patients-dual therapy with 180 patients (18%) and polytherapy with 155 (15%). Drug-resistant epilepsy was defined as 15% in the follow-up period. Etiology-specific diagnoses of the cohort were structural (n = 165, 17%), genetic (n = 25, 3%), metabolic (n = 15%), immune-infectious (n = 17 (2%), and unknown (n = 781, 77%). With a comparison of the 2 most common etiology subgroups (structural versus unknown), a first-drug efficacy rate of 53% and a higher prevalence of drug-resistant epilepsy at 30% were observed in children with structural etiology. First-drug efficacy was statistically lower in children without well-defined epilepsy syndromes (65%) compared with the rate of those with well-defined epilepsy syndrome (79%). Conclusion: This study revealed a first-drug failure rate (33%) in the presented cohort with a drug-resistance epilepsy rate (15%).
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    Trends in the choice of antiseizure medications in juvenile myoclonic epilepsy: A retrospective multi-center study from Turkey between 2010 and 2020
    (W B Saunders Co Ltd, 2022) Kilic, Betul; Serdaroglu, Esra; Polat, Burcin Gonullu; Ince, Tugce; Esenulku, Gulnur; Topcu, Yasemin; Serdaroglu, Ayse
    Purpose:Valproic acid (VPA) is frequently used and effective in juvenile myoclonic epilepsy (JME). Recently, levetiracetam (LEV) has been suggested as a monotherapy in JME. This study aimed to evaluate antiseizure medication (ASM) use in patients with JME. Methods: Treatment choices in a total of 257 patients (age range 8-18 years, 152 girls, 105 boys) with JME diagnosed and treated between 2010 and 2020 were evaluated retrospectively. Seizure remission was defined as complete seizure control for at least 12 months. Results: Across the study period and entire patient group, VPA was most commonly chosen as the initial ASM (50.9%), followed by LEV (44.4%), and lamotrigine (4.7%). VPA was also the most frequent first choice in the subgroup of boys (73.3%), while LEV was the commonest first choice in girls (57.9%). The sex difference regarding the ASM of the first choice was statistically significant (p<0.001). While VPA was the most frequent initial ASM in the first 5 years of the study period (2010-2015,n = 66, 64%), LEV had taken over as the most popular first ASM in the last 5 years (n = 83, 53.9%, p = 0.005). The most frequent reasons for discontinuation were inefficacy for LEV and adverse effects for VPA (p= 0.001). During follow-up, 237 patients (92.2%) were seizure-free for at least 12 months, and 159 (61.9%) were also in electmgraphic remission. Seizure remission occurred earlier than electroencephalographic remission (p<0.001). Conclusion: This study revealed that LEV has become the most frequently chosen initial ASM in the treatment of JME. Although LEV appears to have a better adverse effect profile, VPA seems more likely to be effective in achieving seizure control.